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Apert syndrome in Adult
See also in: Nail and Distal Digit
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Apert syndrome in Adult

See also in: Nail and Distal Digit
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Contributors: Harold E. Cross MD, PhD, Lauren Patty Daskivich MD, MSHS
Other Resources UpToDate PubMed

Synopsis

Apert syndrome is a clinically heterogeneous skeletal disorder with features overlapping those of Crouzon, Pfeiffer, and Jackson-Weiss acrocephalopolysyndactyly syndromes, with which it is allelic. There is considerable variation in clinical severity, with some patients so mildly affected that they appear almost normal, while others have more severe facial deformities, and still others have syndactyly, sometimes to a marked degree. Pre- and post-axial polydactyly may be present. Progressive synostosis occurs in hands, cervical vertebrae, carpus, tarsus, and of course in the skull, which leads to acrocephaly. The midface is usually flattened.

A small but significant number of individuals have developmental delay and cognitive impairments.

For more information, see OMIM.

Codes

ICD10CM:
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance

SNOMEDCT:
205258009 – Apert syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Some degree of craniosynostosis is found in more than 150 heritable conditions, but the specific pattern of synostoses and the foot and hand deformities should suggest this category of disease. The major diagnostic challenge comes from the difficulty of discerning which type of acrocephalopolysyndactyly a patient has. Because members of this group are allelic and have overlapping clinical features, diagnostic certainty of Apert syndrome is only possible when mutations are found in FGFR2 (Apert syndrome results only from mutations in FGFR2). Saethre-Chotzen syndrome may also have similar features, but short stature, radioulnar synostosis, and hallux valgus are often present. The skull deformity in Carpenter syndrome may be similar and polysyndactyly is present in some individuals, but the inheritance pattern is autosomal recessive and the mutation is in the RAB23 gene.

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Last Updated: 10/12/2018
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Apert syndrome in Adult
See also in: Nail and Distal Digit
Print 7 Images
View all Images (7)
(with subscription)
Apert syndrome : Broad nail and/or distal digit, Craniosynostosis, Flat nasal bridge, Hypertelorism, Chronic hyperhidrosis
Clinical image of Apert syndrome
Copyright © 2018 VisualDx®. All rights reserved.